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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ASXL1

Variant:p.L1082del1

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ASXL1

NM_015338.6:p.L1082del1

hg38:chr20:32435952 ACTG>A

Associated Papers

Clinical Validation of Local Versus Commercial Genomic Testing in Cancer: A Comparison of Tissue and Plasma Concordance.

Faulkner LG et al.

Cancer Investigation, 2025

39989311 (PubMed )

Supplement: supplement_1.pdf

Recurrent somatic mutations are rare in patients with cryptic dyskeratosis congenita.

Kirschner M et al.

Leukemia, 2018

29749397 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."